Phenotype #0000356454

Individual ID 00471647
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., prenatal growth filure; microcephaly (-2.5 SD); motor delay; speech delay; moderate intellectual disability; no behavioral disorder; no dysmorphic features; no seizures; MRI brain simplified gyral pattern; ventricular septal defect, mitral valve insufficiency, horseshoe kidney, anal atresia
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-12-28 16:46:15 +01:00 (CET)
Date last edited N/A

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